Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338892
TH
1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 3
rs45471299
TH
1.000 0.040 11 2164339 missense variant G/A snv 4.0E-05 2.1E-05 2
rs104893665
SPR
1.000 0.200 2 72888457 missense variant A/G snv 5.6E-05 5.6E-05 2
rs121917747
SPR
1.000 0.200 2 72891502 stop gained A/T snv 8.0E-05 5.6E-05 2
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv 59
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs1553547838
SATB2
0.925 0.280 2 199328709 stop gained G/A snv 4
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv 11
rs1554504684
RHOBTB2
1.000 8 23007711 missense variant G/A snv 3
rs869025222
RARB
0.827 0.240 3 25580574 missense variant T/C snv 9
rs869025221
RARB
0.925 0.080 3 25593603 missense variant G/C snv 5
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv 33
rs121434410
PRKRA ; CHROMR
1.000 0.040 2 178436264 missense variant G/A snv 9.9E-05 9.1E-05 3
rs121908683
PLA2G6
0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05 5
rs531630376
PCDH12
1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 4
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 9
rs1057518942
NPC1
1.000 0.160 18 23544424 missense variant G/A snv 2
rs113371321
NPC1
18 23534477 missense variant G/A;C snv 1.2E-04 1
rs797045055
ND5 ; ND6 ; CYTB
1.000 0.080 MT 14597 missense variant A/G snv 2
rs1114167290
MYO5A
0.882 0.080 15 52340235 missense variant G/C snv 5
rs1372180906
MIR4686 ; TH
11 2171856 5 prime UTR variant C/T snv 7.0E-06 1
rs137852968
MIR103A2 ; PANK2
0.925 0.080 20 3916955 stop gained C/A;T snv 4.0E-06; 1.2E-05; 3.6E-05 3